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Recent Progress in Mechanism-Based Therapies for GJB2-Related Hearing Loss
Chengzhi Liu1, Xiaohui Wang1,2, Yu Sun1,3,4
1Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430074, China.
International Journal of Molecular Sciences
|May 27, 2026
Summary
GJB2-associated hearing loss, the most common hereditary deafness, stems from diverse GJB2 gene variants and multiple pathogenic processes. Tailoring treatments to specific variants and mechanisms is crucial for effective therapy.
Area of Science:
- Genetics and Molecular Biology
- Otolaryngology
- Regenerative Medicine
Background:
- GJB2-associated hearing loss is the leading cause of non-syndromic hereditary deafness globally.
- Significant heterogeneity exists in clinical presentation and underlying GJB2 gene mechanisms.
- Current understanding moves beyond simple gap junction defects to encompass complex pathologies.
Purpose of the Study:
- To review mechanism-oriented therapeutic strategies for GJB2-associated hearing loss.
- To correlate GJB2 variants with distinct clinical phenotypes and pathogenic mechanisms.
- To guide the selection of appropriate treatments based on underlying pathology.
Main Methods:
- Literature review of GJB2 variants and associated hearing loss.
- Analysis of pathogenic mechanisms beyond gap junction dysfunction.
- Evaluation of emerging therapeutic strategies targeting specific molecular and cellular pathways.
Main Results:
- GJB2-associated hearing loss results from multiple processes: impaired GJB2 transcription, cochlear development issues, sensory degeneration, and inflammation.
- Therapeutic strategies include gene therapy, protein transport restoration, and pharmacological interventions.
- The effectiveness of treatments depends on targeting specific GJB2 variants and pathogenic pathways.
Conclusions:
- Therapeutic strategies for GJB2 hearing loss must be aligned with specific GJB2 variants and their mechanisms.
- Interventions targeting the cochlear microenvironment and developmental window are promising.
- A personalized medicine approach is essential for managing GJB2-associated hearing loss.
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